Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
Medical Genetics Unit, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
BMC Med Genomics. 2021 Jul 20;14(1):187. doi: 10.1186/s12920-021-01030-w.
Basal cell carcinoma (BCC) represents by far the most common non-melanoma skin cancer (NMSC) in the world with an increasing incidence of 3% to 10% per year, especially in patients under the age of 40. While variants in the sonic Hedgehog and cell cycle regulation pathways account for the majority of BCC cases in adults, the molecular etiology of BCC in young patients is unelucidated yet. This study aims to investigate the molecular profile of BCC in the young population.
28 tumors belonging to 25 Lebanese patients under the age of 40, presenting different stages of BCC and diagnosed at Hôtel Dieu de France-Saint Joseph University Medical Center were included in this study. A selected panel of 150 genes involved in cancer was analyzed by Next Generation Sequencing (NGS) in the 28 included tumors.
Genetic variants detected in more than 5% of the reads, with a sequencing depth ≥ 50x, were selected. Two hundred and two genetic variants in 48 different genes were detected, with an overall average sequencing depth of 1069x. Among the 28 studied tumors, 18 (64.3%) show variations in the PTCH1 gene, 6 (21.4%) in TP53 and 3 (10.7%) in SMO.
This is the first study reporting NGS-based analysis of BCC in a cohort of young patients. Our results highlight the involvement of the hedgehog and cell cycle regulation pathways in the genesis of BCC in the general population. The inclusion of a larger cohort of young patients is needed to confirm our findings.
基底细胞癌（BCC）是目前世界上最常见的非黑色素瘤皮肤癌（NMSC），发病率每年以 3%至 10%的速度递增，尤其是在 40 岁以下的患者中。尽管 sonic Hedgehog 和细胞周期调控通路中的变异在成人 BCC 病例中占大多数，但年轻患者中 BCC 的分子病因尚未阐明。本研究旨在探讨年轻人群中 BCC 的分子特征。
本研究共纳入 25 例来自黎巴嫩的 40 岁以下患者的 28 例肿瘤，这些患者患有不同分期的 BCC，均在 Hôtel Dieu de France-Saint Joseph 大学医学中心确诊。通过下一代测序（NGS）对 28 例纳入肿瘤中涉及癌症的 150 个基因进行了分析。
选择了测序深度≥50x，读取中超过 5%的基因变异。在 48 个不同基因中检测到 202 个基因变异，总体平均测序深度为 1069x。在研究的 28 例肿瘤中，18 例（64.3%）存在 PTCH1 基因变异，6 例（21.4%）存在 TP53 基因变异，3 例（10.7%）存在 SMO 基因变异。
这是第一项针对年轻患者群体的 BCC 基于 NGS 分析的研究。我们的研究结果强调了 hedgehog 和细胞周期调控通路在普通人群中 BCC 发病机制中的作用。需要纳入更大的年轻患者队列来证实我们的发现。
